A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13706434



Internal ID21228230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694525..2694525hg38UCSC Ensembl
chr6:2694759..2694759hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2812929
Supporting Variants
Samples
Known GenesMYLK4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13706434
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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